Endocrine Abstracts

Introduction: Bisphosphonates, generally considered as safe drugs, are potent inhibitors of bone calcium outflow used to treat osteoporosis and hypercalcemia associated with malignancy. Bisphosphonate-induced hypocalcaemia is an increasingly reported complication, but it has not yet been a subject of comprehensive research.Case report: A 65-year-old woman had a history of Crohn’s disease and ankylosing spondylitis medicated with prednisolone and eta...

Tumor heterogeneity affects diagnosis, prognosis and response to therapy. Heterogeneity is found in both normal and neoplastic human mammary gland. For example, luminal estrogen receptor (ER)-negative cells can give rise to various phenotypes, including ER-negative and ER-positive mammary tumors, suggesting that the cell-of-origin does not necessarily reflect the tumor type. Regarding ER status, heterogeneity can challenge endocrine therapies; elimination of responsive clones ...

Introduction: Vitamin D, known mainly as a calcium-phosphorus homeostasis regulator, turned out to play also a significant role in the immune system modulation. Vitamin D deficiency has been reported in some autoimmune disorders. It is also suspected that polymorphisms of vitamin D-related genes comprise a risk factor for different autoimmune diseases. Therefore the aim of our study was to assess vitamin D receptor (VDR) gene FokI polymorphism in thyroid associated orbitopathy...

Introduction: Paraganglioma (PGL) develops from cells of the parasympathetic and sympathetic system. It usually manifests as a slow- growing and painless mass. PGL may be hereditary, benign, malignant, unilateral or bilateral tumors. In most cases PGL is located around the common carotid artery but may also be located within the middle ear or in the abdomen. Non functional retroperitoneal PGL are rare tumors, usually asymptomatic, and can attain big dimensions. Mutations in th...

Background: Serum thyroglobulin (Tg) is a reliable tumor marker in patients with differentiated thyroid carcinoma (DTC). Distant metastases of DTC, particularly in the lung, normally presents with higher levels of Tg, which is useful to follow the disease evolution. We describe a patient with DTC with lung metastases, with undetectable Tg and Tg-antibodies (TgAb).Clinical case: A 52-year-old woman underwent a subtotal thyroidectomy in 1993 because of a g...

We measured chromogranin A (CgA) and chromogranin B (CgB) in 36 patients, recently confirmed to have a midgut carcinoid tumour (MGC), prior to the commencement of octreotide treatment. Blood samples were taken before and after a bolus injection of 50 μg octreotide. There were 21 males, 15 females, age range 28–76 median 61 years.Basal CgA, expressed as times the upper limit of normal (ULN) ranged from 333.3 to 0.5 ULN. Basal CgB ranged from 33....

Introduction: Glucokinase-MODY (Maturity onset diabetes of the young) results from heterozygous mutations in the GCK gene, impairing its enzymatic activity. GCK acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We describe two cases of MODY due to a GCK gene mutation not described until now.Clinical Case: A 63-year-old male is followed in our hospital for 30 years due to diabetes mellitus (DM). He was diagnose...

Background: Gigantism and acromegaly are the main consequences of GH excess, mainly due to a pituitary adenoma. Surgery is the first therapeutic option, but also medical therapy is employed, being represented mostly by somatostatin analogues (SSA), that reduce both tumour mass and GH hypersecretion. However about 10% of patients is resistant to SSA.PI3K/Akt/mTOR pathway, activated by growth-factors such as IGF1, is important in regulating many cellular p...

Background: Neuroblastomas are malignant tumors that arise from sympathetic plexus or adrenal medulla. Their clinical behavior can range from spontaneous regression to aggressive disease. Like paragangliomas, they have the capacity to secrete catecholamines and to express somatostatin receptors, which is important for diagnostic and treatment purposes. However, the differential diagnosis with paraganglioma can be challenging. We present a case of a catecholamine-producing tumo...

Graves’ disease is characterized by the occurrence of antibodies against thyroid-stimulating hormone (TSH) receptor that stimulate the gland to produce T4 and T3. It can be accompanied by an infiltrative orbitopathy and oftalmopathy. Another seldom- regognized feature of this disease is thymic hyperplasia.The authors report the case of a 22-year-old woman with Graves’ disease (TSH receptor antibodies 178 U/l) with exuberant oftalmopathy and an ...